Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

Authors

• JENKINS, Dagan
• BAYNAM, Gareth
• CATTE, Luc De
• ELCIOGLU, Nursel
• GABBETT, Michael T.
• HUDGINS, Louanne
• HURST, Jane A.
• JEHEE, Fernanda Sarquis
• OLEY, Christine
• WILKIE, Andrew O. M.

Publication Date

Jan 01, 2011

Source

Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP)

Keywords

• Rab23
• Acrocephalopolysyndactyly Syndrome
• Nonsense Mediated Mrna Decay
• Switch Domain
• Beta-Globin Gene
• Gli3 Mutations
• Gtpases
• Recognition
• Thalassemia
• Phenotype
• Mechanism
• Membrane
• Family
• Genetics & Heredity

Language

English

License

Unknown

External links

• Full record on dx.doi.org
  
• Full record on producao.usp.br